Incidental Mutation 'R4939:Pde6b'
ID 382904
Institutional Source Beutler Lab
Gene Symbol Pde6b
Ensembl Gene ENSMUSG00000029491
Gene Name phosphodiesterase 6B, cGMP, rod receptor, beta polypeptide
Synonyms rd, rd10, rd1, r, Pdeb
MMRRC Submission 042538-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4939 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 108536239-108579609 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 108569363 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 357 (I357V)
Ref Sequence ENSEMBL: ENSMUSP00000031456 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031456]
AlphaFold P23440
Predicted Effect probably benign
Transcript: ENSMUST00000031456
AA Change: I357V

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000031456
Gene: ENSMUSG00000029491
AA Change: I357V

DomainStartEndE-ValueType
GAF 71 230 1.29e-27 SMART
GAF 252 439 5.76e-25 SMART
Blast:HDc 484 538 1e-24 BLAST
HDc 554 732 1.25e-9 SMART
Blast:HDc 757 792 8e-13 BLAST
low complexity region 813 837 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134865
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.4%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Photon absorption triggers a signaling cascade in rod photoreceptors that activates cGMP phosphodiesterase (PDE), resulting in the rapid hydrolysis of cGMP, closure of cGMP-gated cation channels, and hyperpolarization of the cell. PDE is a peripheral membrane heterotrimeric enzyme made up of alpha, beta, and gamma subunits. This gene encodes the beta subunit. Mutations in this gene result in retinitis pigmentosa and autosomal dominant congenital stationary night blindness. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2009]
PHENOTYPE: Homozygotes for the rd1 mutation have severe retinal degeneration and vision loss. Rod cells are lost by 35 days of age; cone cells degenerate slower and some light sensitivity persists. Other allelic mutations produce similar or milder phenotypes. [provided by MGI curators]
Allele List at MGI

All alleles(13) : Targeted, knock-out(1) Targeted, other(1) Spontaneous(2) Chemically induced(9)

Other mutations in this stock
Total: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl1 A T 4: 86,161,962 (GRCm39) Y365F possibly damaging Het
Atp2a1 T C 7: 126,049,288 (GRCm39) M585V probably benign Het
Brca1 A G 11: 101,398,876 (GRCm39) V1572A probably benign Het
C1ql4 A T 15: 98,985,521 (GRCm39) M30K probably damaging Het
Ccdc73 A G 2: 104,822,502 (GRCm39) probably null Het
Cdk6 A T 5: 3,394,377 (GRCm39) D4V probably null Het
Celf3 ACAGCAGCAGCAGCAGCAGCAGCA ACAGCAGCAGCAGCAGCAGCA 3: 94,395,537 (GRCm39) probably benign Het
Clic4 T C 4: 134,950,852 (GRCm39) E113G probably benign Het
Creld1 C A 6: 113,465,140 (GRCm39) H122Q probably benign Het
Cyp4a29 G A 4: 115,104,873 (GRCm39) probably null Het
Dnaaf3 A T 7: 4,530,144 (GRCm39) S246R probably damaging Het
Dnah12 A T 14: 26,613,481 (GRCm39) T3925S probably damaging Het
Dnajc21 T A 15: 10,449,683 (GRCm39) D446V probably damaging Het
Dock8 A T 19: 25,099,764 (GRCm39) Y629F probably damaging Het
Duxf4 T C 10: 58,071,425 (GRCm39) N263S probably benign Het
E2f8 A T 7: 48,521,886 (GRCm39) N405K probably benign Het
Flg A G 3: 93,187,154 (GRCm39) N202S probably benign Het
Glyatl3 A G 17: 41,220,914 (GRCm39) probably null Het
Gm38999 A G 7: 43,077,885 (GRCm39) T63A possibly damaging Het
Grap A G 11: 61,551,124 (GRCm39) Y52C probably damaging Het
Haus2 T A 2: 120,449,517 (GRCm39) I187K probably damaging Het
Heatr5b T C 17: 79,069,689 (GRCm39) E1686G probably benign Het
Herc2 A G 7: 55,856,484 (GRCm39) D3944G probably damaging Het
Hexd A T 11: 121,098,542 (GRCm39) M9L probably benign Het
Hoxa3 T C 6: 52,147,656 (GRCm39) probably benign Het
Hspg2 A T 4: 137,235,342 (GRCm39) I126F probably damaging Het
Itpr1 T A 6: 108,417,519 (GRCm39) C123* probably null Het
Jmjd1c T A 10: 67,081,916 (GRCm39) N2346K possibly damaging Het
Kctd9 A G 14: 67,967,135 (GRCm39) Y37C probably damaging Het
Kmt5b A C 19: 3,865,245 (GRCm39) S747R possibly damaging Het
Krt26 T C 11: 99,225,522 (GRCm39) M320V probably benign Het
Lama1 T G 17: 68,044,470 (GRCm39) V123G possibly damaging Het
Lamc2 T C 1: 153,002,582 (GRCm39) D1103G probably damaging Het
Lepr A T 4: 101,590,635 (GRCm39) K71I possibly damaging Het
Llgl1 A T 11: 60,600,805 (GRCm39) probably null Het
Mcoln2 A T 3: 145,897,996 (GRCm39) H39L probably benign Het
Mtrex T C 13: 113,046,426 (GRCm39) D308G possibly damaging Het
Myh11 T A 16: 14,057,371 (GRCm39) T315S probably benign Het
Ncapd3 T C 9: 26,975,165 (GRCm39) probably null Het
Nlrp9b G T 7: 19,758,421 (GRCm39) V553F probably damaging Het
Nubpl A G 12: 52,227,878 (GRCm39) N129S probably damaging Het
Nup214 C A 2: 31,873,171 (GRCm39) T255K probably benign Het
Or10j3 T C 1: 173,031,030 (GRCm39) Y36H possibly damaging Het
Or2t46 G T 11: 58,472,037 (GRCm39) M122I probably damaging Het
Or2y17 A G 11: 49,231,376 (GRCm39) T6A probably benign Het
Or4d1 G T 11: 87,804,950 (GRCm39) P261T probably damaging Het
Or52z14 T C 7: 103,253,458 (GRCm39) V199A probably benign Het
Or5b3 T A 19: 13,388,219 (GRCm39) N95K probably benign Het
Orc3 G A 4: 34,593,126 (GRCm39) Q256* probably null Het
Pbrm1 A G 14: 30,783,580 (GRCm39) M566V probably damaging Het
Pkdrej A G 15: 85,704,484 (GRCm39) I484T possibly damaging Het
Plvap A G 8: 71,964,083 (GRCm39) V93A probably benign Het
Plxna4 T C 6: 32,142,697 (GRCm39) Y1586C probably damaging Het
Ppfia4 A T 1: 134,255,817 (GRCm39) L196Q possibly damaging Het
Ptpn13 T G 5: 103,665,335 (GRCm39) probably null Het
Ranbp17 T C 11: 33,169,223 (GRCm39) N997S probably benign Het
Rpap2 G T 5: 107,751,491 (GRCm39) probably null Het
Rrm1 T C 7: 102,116,131 (GRCm39) V683A probably benign Het
Ruvbl1 A G 6: 88,460,021 (GRCm39) probably null Het
Sh3pxd2a A G 19: 47,266,843 (GRCm39) Y277H probably damaging Het
Shank1 C T 7: 43,975,586 (GRCm39) P477S unknown Het
Shtn1 T C 19: 59,010,633 (GRCm39) E278G probably benign Het
Skap2 T A 6: 51,899,303 (GRCm39) I109F possibly damaging Het
Slc28a3 A C 13: 58,706,395 (GRCm39) I615M probably benign Het
Slc4a11 A G 2: 130,526,788 (GRCm39) L780P probably damaging Het
Slc5a4b T C 10: 75,917,301 (GRCm39) E245G probably benign Het
Slfn8 C T 11: 82,894,111 (GRCm39) A843T probably benign Het
Sncaip A T 18: 53,040,335 (GRCm39) Q843L possibly damaging Het
Spidr T A 16: 15,958,610 (GRCm39) K51* probably null Het
Spopfm2 A T 3: 94,083,540 (GRCm39) Y90* probably null Het
Tas2r123 T C 6: 132,824,808 (GRCm39) V235A probably benign Het
Tgfbr3 T C 5: 107,278,335 (GRCm39) D757G probably benign Het
Tmem132d A T 5: 127,873,139 (GRCm39) V490D probably damaging Het
Top2a T A 11: 98,900,918 (GRCm39) H557L probably damaging Het
Trafd1 A G 5: 121,513,254 (GRCm39) I328T probably benign Het
Trappc11 G A 8: 47,972,700 (GRCm39) A291V probably damaging Het
Tuba1c A G 15: 98,935,835 (GRCm39) Y432C probably damaging Het
Utp11 T G 4: 124,577,043 (GRCm39) R109S possibly damaging Het
Vmn1r159 T G 7: 22,542,316 (GRCm39) T239P probably damaging Het
Vwce A T 19: 10,622,414 (GRCm39) N239Y probably damaging Het
Yes1 T C 5: 32,802,457 (GRCm39) probably null Het
Zfand6 A C 7: 84,265,030 (GRCm39) *224G probably null Het
Zfp408 A T 2: 91,475,450 (GRCm39) I668N probably damaging Het
Zfp647 TGCACG TGCACGCACG 15: 76,795,244 (GRCm39) probably null Het
Zfp946 T C 17: 22,674,418 (GRCm39) F391L probably damaging Het
Other mutations in Pde6b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00534:Pde6b APN 5 108,574,437 (GRCm39) splice site probably benign
IGL01071:Pde6b APN 5 108,567,581 (GRCm39) nonsense probably null
IGL01335:Pde6b APN 5 108,571,379 (GRCm39) missense probably benign 0.03
IGL01611:Pde6b APN 5 108,551,262 (GRCm39) missense possibly damaging 0.90
IGL01881:Pde6b APN 5 108,569,366 (GRCm39) missense probably benign 0.01
IGL01941:Pde6b APN 5 108,570,902 (GRCm39) missense probably benign 0.11
IGL02616:Pde6b APN 5 108,579,407 (GRCm39) missense probably benign 0.05
IGL02657:Pde6b APN 5 108,568,142 (GRCm39) splice site probably benign
IGL03217:Pde6b APN 5 108,567,432 (GRCm39) missense probably damaging 1.00
Bemr28 UTSW 5 0 () unclassified
D4043:Pde6b UTSW 5 108,573,222 (GRCm39) nonsense probably null
N/A:Pde6b UTSW 5 108,576,969 (GRCm39) unclassified probably benign
PIT4362001:Pde6b UTSW 5 108,571,451 (GRCm39) critical splice donor site probably null
PIT4581001:Pde6b UTSW 5 108,576,374 (GRCm39) missense probably benign 0.01
R0940:Pde6b UTSW 5 108,568,203 (GRCm39) missense possibly damaging 0.95
R0963:Pde6b UTSW 5 108,578,534 (GRCm39) missense probably benign
R1738:Pde6b UTSW 5 108,578,425 (GRCm39) nonsense probably null
R1753:Pde6b UTSW 5 108,536,557 (GRCm39) nonsense probably null
R1801:Pde6b UTSW 5 108,575,713 (GRCm39) missense possibly damaging 0.51
R1913:Pde6b UTSW 5 108,575,056 (GRCm39) missense probably benign 0.05
R2131:Pde6b UTSW 5 108,576,069 (GRCm39) missense probably damaging 1.00
R2282:Pde6b UTSW 5 108,571,452 (GRCm39) splice site probably null
R3713:Pde6b UTSW 5 108,570,928 (GRCm39) missense probably damaging 1.00
R4385:Pde6b UTSW 5 108,575,508 (GRCm39) missense probably benign 0.08
R4562:Pde6b UTSW 5 108,551,234 (GRCm39) missense probably benign 0.23
R4582:Pde6b UTSW 5 108,573,097 (GRCm39) critical splice acceptor site probably null
R4950:Pde6b UTSW 5 108,578,569 (GRCm39) missense probably benign 0.16
R4972:Pde6b UTSW 5 108,573,130 (GRCm39) missense probably benign 0.00
R4983:Pde6b UTSW 5 108,573,196 (GRCm39) missense probably benign 0.21
R5056:Pde6b UTSW 5 108,571,357 (GRCm39) nonsense probably null
R5514:Pde6b UTSW 5 108,571,317 (GRCm39) missense probably benign 0.06
R5528:Pde6b UTSW 5 108,571,424 (GRCm39) missense probably benign 0.04
R5937:Pde6b UTSW 5 108,572,193 (GRCm39) missense probably benign 0.00
R6556:Pde6b UTSW 5 108,569,367 (GRCm39) missense possibly damaging 0.56
R6826:Pde6b UTSW 5 108,578,458 (GRCm39) nonsense probably null
R6884:Pde6b UTSW 5 108,536,574 (GRCm39) missense probably damaging 0.99
R7213:Pde6b UTSW 5 108,551,956 (GRCm39) missense probably damaging 1.00
R7444:Pde6b UTSW 5 108,575,008 (GRCm39) nonsense probably null
R7690:Pde6b UTSW 5 108,567,384 (GRCm39) missense probably damaging 1.00
R7909:Pde6b UTSW 5 108,551,288 (GRCm39) missense probably benign 0.01
R7937:Pde6b UTSW 5 108,567,639 (GRCm39) critical splice donor site probably null
R8049:Pde6b UTSW 5 108,573,118 (GRCm39) missense probably benign 0.04
R8087:Pde6b UTSW 5 108,536,328 (GRCm39) missense probably benign 0.00
R8698:Pde6b UTSW 5 108,576,105 (GRCm39) missense possibly damaging 0.87
R8822:Pde6b UTSW 5 108,551,328 (GRCm39) missense probably benign 0.00
R8985:Pde6b UTSW 5 108,578,503 (GRCm39) missense probably benign 0.02
R9016:Pde6b UTSW 5 108,536,592 (GRCm39) missense possibly damaging 0.88
R9292:Pde6b UTSW 5 108,536,751 (GRCm39) missense probably benign 0.00
R9323:Pde6b UTSW 5 108,551,298 (GRCm39) missense probably damaging 1.00
R9414:Pde6b UTSW 5 108,567,592 (GRCm39) missense possibly damaging 0.82
R9486:Pde6b UTSW 5 108,551,241 (GRCm39) missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- TATGATATGTGCTAGCCTGCTAC -3'
(R):5'- CCCGGAAAGTCACTGAGATG -3'

Sequencing Primer
(F):5'- GTGCTAGCCTGCTACCTCCTATTAG -3'
(R):5'- CTAACTGATACTGGAGCTCACTGG -3'
Posted On 2016-04-27